-
Fukao, T, Aoyama, Y, Murase, K, Hori, T, Harijan, RK, Wierenga, RK, Boneh, A, Kondo, N.
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Molecular Genetics and Metabolism
110(1-2)
:
184 -187
2013
view publication
-
Abacan, M, Boneh, A.
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
Molecular Genetics and Metabolism
109(4)
:
397 -401
2013
view publication
-
Yaplito-Lee, J, Chow, C-W, Boneh, A.
Histopathological findings in livers of patients with urea cycle disorders.
Molecular Genetics and Metabolism
108(3)
:
161 -165
2013
view publication
-
Gardeitchik, T, Humphrey, M, Nation, J, Boneh, A.
Early Clinical Manifestations and Eating Patterns in Patients with Urea Cycle Disorders.
The Journal of Pediatrics
161(2)
:
328 -332
2012
view publication
-
Rodney, S, Boneh, A.
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation.
9:
97 -104
2012
view publication